Observational studyBreast cancer (Tokyo, Japan)2021
Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.
Observational study in Breast cancer (Tokyo, Japan), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 19 citations in OpenAlex.
- Novel patient-derived tongue squamous cell carcinoma cell lines from non-smokers: 3D and in vivo models for drug response studies.Medical oncology (Northwood, London, England) · 2026Article
- Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger.NPJ genomic medicine · 2025Article
- 5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.Familial cancer · 2025Article
- Current insights and future directions of Li-Fraumeni syndrome.Discover oncology · 2024Review
- TheGenes · 2023Article
- Hereditary cancer syndromes.World journal of clinical oncology · 2023Review
- Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.Hereditary cancer in clinical practice · 2021Article
- Is Gestational Diabetes Mellitus a Risk Factor of Maternal Breast Cancer? A Systematic Review of the Literature.Biomedicines · 2021Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe objective of this study was to determine spectrum and prevalence of germline mutations in TP53 gene among Polish women with early-onset breast cancer (BC), which has not been determined until now.
methodsA cohort of 100 females with BC diagnosed ≤ 30 years of age and with a positive family history of cancer was used as a discovery cohort. 1880 women with BC ≤ 45 years old and a control group of 2000 healthy women were genotyped as a replication phase of this study.
resultsFour heterozygous pathogenic missense mutations were detected in a group of 100 patients with early-onset breast cancer. On the basis of software prediction and available literature data, all these variants were defined as pathogenic. None of these TP53 variants were detected among 1880 breast cancer patients and 2000 healthy controls. No large mutations were found among early-onset cases using MLPA reaction.
conclusionGermline pathogenic TP53 variants were found in 4% early-onset Polish BC patients. No founder mutations were identified in Polish population. To improve the treatment and surveillance screening, the search for germline TP53 pathogenic variants is recommended for all female BC cases diagnosed ≤ 30 years old.
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